Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Skin Diseases and Disorders01:23

Skin Diseases and Disorders

5.9K
Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
5.9K
Endocarditis II: Clinical Features of Infective Endocarditis01:25

Endocarditis II: Clinical Features of Infective Endocarditis

659
Endocarditis can present various clinical features depending on the causative organism and the patient's underlying health conditions. Initially, the clinical features of infective endocarditis develop gradually, presenting with nonspecific symptoms that can be easily mistaken for other illnesses.General SymptomsEarly symptoms of infective endocarditis are fever, chills, weakness, malaise, fatigue, and weight loss. These symptoms reflect the systemic nature of the infection and the body's...
659
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

787
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
787
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

546
Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
546
Nephrotic Syndrome II : Assessment and Medical Management01:26

Nephrotic Syndrome II : Assessment and Medical Management

285
IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document...
285
Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

4.0K
The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
4.0K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Disseminated tense bullae on newborn.

JAAD case reports·2022
Same author

Linear cutaneous lupus erythematosus following the lines of Blaschko - Case report.

Anais brasileiros de dermatologia·2016
Same author

Paronychia and granulation tissue formation during treatment with isotretinoin.

Anais brasileiros de dermatologia·2016
Same author

Linear psoriasis: case report on three year old child.

Anais brasileiros de dermatologia·2015
Same author

The use of lymecycline and benzoyl peroxide for the treatment of progressive macular hypomelanosis: a prospective study.

Anais brasileiros de dermatologia·2011
Same author

Primary erythromelalgia: case report.

Anais brasileiros de dermatologia·2011

Related Experiment Video

Updated: Mar 6, 2026

Author Spotlight: Anterior HR-OCT as a Non-Invasive Tool for Characterizing Ocular Surface Squamous Neoplasia
06:15

Author Spotlight: Anterior HR-OCT as a Non-Invasive Tool for Characterizing Ocular Surface Squamous Neoplasia

Published on: August 9, 2024

1.9K

Oculoectodermal syndrome: twentieth described case with new manifestations.

Daniela de Almeida Figueiras1, Deborah Maria de Castro Barbosa Leal1, Valter Kozmhinsky1

  • 1Instituto de Medicina Integral Professor Fernando Figueira (IMIP) - Recife (PE), Brazil.

Anais Brasileiros De Dermatologia
|March 17, 2017
PubMed
Summary

Oculoectodermal syndrome, a rare condition, involves aplasia cutis congenita and epibulbar dermoids. This case report details a 20th patient, expanding the known clinical features of this rare genetic disorder.

More Related Videos

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

16.6K
Nasolacrimal Lavage as a Treatment for Ocular Surface Toxic Soup Syndrome
03:40

Nasolacrimal Lavage as a Treatment for Ocular Surface Toxic Soup Syndrome

Published on: April 25, 2025

1.2K

Related Experiment Videos

Last Updated: Mar 6, 2026

Author Spotlight: Anterior HR-OCT as a Non-Invasive Tool for Characterizing Ocular Surface Squamous Neoplasia
06:15

Author Spotlight: Anterior HR-OCT as a Non-Invasive Tool for Characterizing Ocular Surface Squamous Neoplasia

Published on: August 9, 2024

1.9K
A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

16.6K
Nasolacrimal Lavage as a Treatment for Ocular Surface Toxic Soup Syndrome
03:40

Nasolacrimal Lavage as a Treatment for Ocular Surface Toxic Soup Syndrome

Published on: April 25, 2025

1.2K

Area of Science:

  • Genetics and Rare Diseases
  • Dermatology and Ophthalmology
  • Pediatric Neurology

Background:

  • Oculoectodermal syndrome is a rare genetic disorder characterized by aplasia cutis congenita and epibulbar dermoids.
  • This report presents the twentieth documented case, contributing to the understanding of this rare condition.

Observation:

  • A 4-year-old female presented with classical features: aplasia cutis congenita and epibulbar dermoids.
  • The patient exhibited additional abnormalities, including Blaschko-linear hyperpigmentation, hypopigmented skin areas, arachnoid cyst, hippocampal abnormality, and a dermoid cyst.
  • New associations include infantile and verrucous hemangiomas, with the latter being a novel finding in this syndrome.

Findings:

  • The case confirms the classical presentation of Oculoectodermal syndrome.
  • It significantly expands the known clinical spectrum, detailing previously unreported features like specific neurological and vascular anomalies.
  • The presence of verrucous hemangioma is a novel finding, broadening the syndrome's phenotypic description.

Implications:

  • This case enriches the understanding of Oculoectodermal syndrome's variability and diagnostic criteria.
  • It highlights the importance of comprehensive evaluation in patients with suspected rare genetic disorders.
  • Further research into the genetic underpinnings and management strategies for Oculoectodermal syndrome is warranted.